10: Types A and B Niemann–Pick Disease

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Type A A 3-month-old previously well boy was noted to have hepatosplenomegaly during a routine pediatric visit. Over the next several months, the infant acquired developmental milestones appropriately and learned how to roll over, vocalize, and sit with support. By 10 months of age his abdomen was markedly enlarged, and the extremities appeared thin. Over…
10: Types A and B Niemann–Pick Disease
Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
10: Types A and B Niemann–Pick Disease
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
10: Types A and B Niemann–Pick Disease
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10: Types A and B Niemann–Pick Disease
Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature
10: Types A and B Niemann–Pick Disease
PDF) NIEMANN PICK DISEASE – A CASE REPORT
10: Types A and B Niemann–Pick Disease
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
10: Types A and B Niemann–Pick Disease
Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016 - Journal of Neurochemistry - Wiley Online Library
10: Types A and B Niemann–Pick Disease
MedRewind - #132 Niemann-Pick disease (Types A and B) : caused by the inability to degrade sphingomyelin due to a deficiency of sphingomyelinase, a type of phospholipase C. In the severe infantile
10: Types A and B Niemann–Pick Disease
Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology
10: Types A and B Niemann–Pick Disease
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
10: Types A and B Niemann–Pick Disease
Niemann-Pick disease Information
10: Types A and B Niemann–Pick Disease
Figure 1 from Niemann-Pick disease type B. Study of 3 cases and literature revision
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